Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PNKP HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000472300.1:p.Thr408del	ENST00000596014.5:c.[1218del;1220C>A;1223... ENST00000596014.5:c.[1221del;1223C>T;1225... ENST00000596014.5:c.[1221del;1223C>T;1225... ENST00000596014.5:c.[1221del;1223C>T;1227...